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Koolen de Vries syndrome
Summary
- Synonym
-
- 17q21.31 microdeletion syndrome
- KANSL1-related intellectual disability syndrome
- KdVS
- Koolen-De Vries syndrome
- Definition
- A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0050880
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
